Linked Data
ClinVar Variation Id:
345788
ClinVar RCV Id:
RCV000300144
dbSNP Id:
rs74780677
gnomAD v2:
3-48601774-A-G
gnomAD v3:
3-48564341-A-G
gnomAD v4:
3-48564341-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48564341A>G , CM000665.2:g.48564341A>G | GRCh38 |
| NC_000003.11:g.48601774A>G , CM000665.1:g.48601774A>G | GRCh37 |
| NC_000003.10:g.48576778A>G | NCBI36 |
| NG_007065.1:g.35912T>C , LRG_286:g.35912T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.*65T>C MANE Select | ENSP00000506558.1:n.*65T>C | |
| ENST00000328333.12:c.*65T>C | ENSP00000332371.8:n.*65T>C | |
| ENST00000465238.5:n.319T>C | ||
| ENST00000466591.1:n.511T>C | ||
| ENST00000470076.1:n.383T>C | ||
| ENST00000487017.5:n.5539T>C | ||
| NM_000094.3:c.*65T>C , LRG_286t1:c.*65T>C | NP_000085.1:n.*65T>C | |
| XM_011533336.1:c.*65T>C | XP_011531638.1:n.*65T>C | |
| XM_011533337.1:c.*65T>C | XP_011531639.1:n.*65T>C | |
| XM_011533338.1:c.*65T>C | XP_011531640.1:n.*65T>C | |
| XR_940369.1:n.9036T>C | ||
| XR_940370.1:n.9000T>C | ||
| XR_940371.1:n.8997T>C | ||
| XM_017005688.1:c.*65T>C | XP_016861177.1:n.*65T>C | |
| XR_001740003.1:n.9009T>C | ||
| XR_001740004.1:n.8973T>C | ||
| XR_001740005.1:n.8970T>C | ||
| NM_000094.4:c.*65T>C MANE Select | NP_000085.1:n.*65T>C |